Prognostic factors of Bell's palsy and Ramsay Hunt syndrome.

The aim of this study was to compare clinical characteristics, electroneurography (ENoG) results, and functional outcomes of patients with Bell's palsy (BP) and Ramsay Hunt syndrome (RHS).Around 57 patients with BP and 23 patients with RHS were enrolled in this study from January 2010 and September 2015. Both clinical characteristics and ENoG results were recorded at hospital admission. The evaluations of functional outcomes were conducted with House-Brackmann (H-B) grading system at 6-month follow-up.There were no significant differences in age, gender proportion, initial H-B grades, time before commencement of treatment and the presence of comorbid disease in 2 groups. However, the final H-B grades at 6-month follow-up were significantly better in BP patients than RHS patients. The results of ENoG showed that degeneration index (DI) was significantly higher in the RHS group than the BP group. But no significant difference was found in the value of prolonged latency time (PLT) between the 2 groups. In multivariate analysis, age and ENoG DI were independently associated with functional outcome of recovery in the BP group (OR 0.167, 95% CI 0.038-0.622, P = 0.009 and OR 0.289 95% CI 0.107-0.998, P = 0.050, respectively). However, in the RHS group, only ENoG DI was related to the final H-B grades (OR 0.067, 95% CI 0.005-0.882, P = 0.040). Spearman's rank correlation analysis showed that higher age and ENoG DI were related to poorer prognosis in 2 groups (P < 0.05). PLT was related to functional outcomes only in the BP group (rs = 0.460, P < 0.001). The receiver operating characteristic (ROC) of ENoG DI analysis revealed that the cutoff value was 67.0% for BP prognosis and 64.5% for RHS prognosis. What's more, patients with hypertension or diabetes mellitus had both higher final H-B grade and ENoG DI than those without the same comorbidity.Patients with RHS had poorer prognosis than those with BP. Some factors including age, ENoG DI, and the presence of disease influenced recovery from BP and RHS. The present study demonstrated that BP patients with ENoG DI < 67.0% and RHS patients with ENoG DI < 65.5% had a greater opportunity for recovery within half a year.

Neurosyphilis as a great imitator: a case report.

BACKGROUND: Neurosyphilis is defined as any involvement of the central nervous system by the bacterium Treponema pallidum. Movement disorders as manifestations of syphilis have been reported quite rarely. CASE PRESENTATION: We report a case of a 42-year-old Russian man living in Estonia with rapidly progressive dementia and movement disorders manifesting as myoclonus, cerebellar ataxia and parkinsonism. The mini mental state examination score was 12/30. After excluding different neurodegenerative causes, further diagnostic testing was consistent with neurosyphilis. Treatment with penicillin was started and 6 months later his mini mental state examination score was 25/30 and he had no myoclonus, parkinsonism or cerebellar dysfunction. CONCLUSION: Since syphilis is easily diagnosed and treatable, it should be considered and tested in patients with cognitive impairment and movement disorders.

Ramsay Hunt syndrome type II.

A 57-year-old man developed 3 days of left facial pain and swelling with left-sided hearing loss followed by a painful, unilateral, erythematous, and vesicular rash on the left anterior two-thirds of the tongue, external auditory canal, lip, and face typical of varicella-zoster virus reactivation (figure). Reactivation in the geniculate ganglion or facial nerve is uncommon and typically causes tongue and auricular lesions or facial palsy and was described by Hunt in 1907.(1) The patient received IV acyclovir and oral prednisone with rapid improvement in pain and resolution of lesions and improvement of hearing over 1 month.

Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.

BACKGROUND: Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus. METHODS: We evaluated 5 patients with cortical myoclonus, ataxia, and areflexia. RESULTS: All 5 patients had the same homozygous mutation in GOSR2. Here we present their clinical and neurophysiological data. Our patients (aged 7-26 years) all originated from the northern Netherlands and showed a remarkably homogeneous phenotype. Myoclonus and ataxia were relentlessly progressive over the years. Electromyography revealed signs of sensory neuronopathy or anterior horn cell involvement, or both, in all patients with absent reflexes. CONCLUSIONS: Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia.

Calcificación estrío-palido-dentada bilateral. Presentación en la forma de distonia facial y demencia frontotemporal / Bilateral striopallidodentate calcinosis. A presentation in the form of facial dystonia and frontotemporal dementia

No disponible

Clinical and imaging characterization of a patient with idiopathic progressive ataxia and palatal tremor.

We describe clinical and imaging features of a patient with sporadic progressive ataxia and palatal tremor (PAPT) of unknown etiology. There was hypertrophy of bilateral inferior olivary nuclei with hyperintense T2-weighted signal and mild cerebellar atrophy at brain magnetic resonance imaging. 18F-fluoro-2-desoxy-d-glucose positron emission tomography scanning (FDG-PET) showed hypometabolism in the red nucleus, external globus pallidus and precuneus while FP-CIT-SPECT imaging revealed mild and progressive loss of striatal dopaminergic terminals. Our findings suggest that in idiopathic PAPT involvement of the dentato-rubro-olivary pathway occurs along with some dopaminergic dysfunction.

Actualización en neuroquímica y terapéutica farmacológica de las ataxias cerebelosas / An update on neurochemistry and pharmacological therapy of the cerebellar ataxias

Objetivo. Recopilar los datos neuroquímicos disponibles sobre las diferentes ataxias cerebelosas y los múltiples ensayos terapéuticos realizados hasta el momento actual. Desarrollo. Se han clasificado las ataxias cerebelosas, según las estructuras afectadas, en atrofias cerebelosas corticales, atrofias olivopontocerebelosas, atrofias espinocerebelosas, degeneraciones del núcleo dentado y vías eferentes del cerebelo, y se han incluido las ataxias episódicas al ser eminentemente tratables. No se ha seguido, por tanto, ninguna clasificación nosológica o genética. Primero se han expuesto en cada apartado los datos neuroquímicos, que han resultado incompletos en ocasiones, y a continuación, los intentos de terapéutica farmacológica más relevantes realizados en los últimos 25 años. Tal como se desprende de los datos presentados, los fundamentos neuroquímicos han sido escasamente atendidos en la mayor parte de los ensayos clínicos analizados. Se repasa la neurotransmisión fisiológica del cerebelo al comienzo del trabajo. Conclusión. Se plantea la búsqueda sistemática de ataxias tratables, ante la gravedad de las degenerativas. Se propugna el empleo de fármacos gabérgicos en ataxias que conllevan una deficiencia de GABA, y el de fármacos glutamatérgicos en otras con escasez de glutamato, y se desestima el uso de fármacos serotoninérgicos por carecer de base neuroquímica suficiente. La búsqueda de remedios curativos para las ataxias cerebelosas debería basarse en datos moleculares o, en su defecto, en otros de tipo neuroquímico. Para ello, se aconseja el estudio de modelos animales o experimentales, el empleo de métodos de medición objetiva de la ataxia y el reclutamiento de poblaciones de estudio homogéneas(AU)

Aim. To review the available neurochemical data on the different cerebellar ataxias, and the therapeutic trials undertaken in the last twenty-five years. Development. The cerebellar ataxias have been classified according to the compromised structures in cortical cerebellar atrophies, olivopontocerebellar atrophies, spinocerebellar atrophies, and degenerations of the dentate nucleus and efferent tracts of the cerebellum. Episodic ataxias have been included, as they are eminently treatable. No nosological, nor genetic classification has been followed in this article. In each section, the (frequently fragmentary) neurochemical data is presented first, followed by the most relevant attempts at pharmacological therapy undertaken in the last twenty-five years. As can be observed from the reviewed data, neurochemical principles have rarely been applied in the majority of the analysed clinical trials. An outline of the physiological neurotransmission of the cerebellum is given at the beginning of this article. Conclusion. A systematic search for treatable ataxias is emphasized, as a response to the severity of the degenerative conditions. The use of GABAergic drugs is proposed in ataxias associated with a deficiency of GABA in the brain, and that of glutamatergic agents, for ataxias associated with glutamate deficiency. The use of serotoninergic and cholinergic drugs is ruled out due to insufficient neurochemical evidence. It is proposed that research on remedies for the cerebellar ataxias should be based on either molecular data, or on neurochemical data, in its defect. To this end, the study of animal or experimental models of ataxia, the use of objective methods for the measurement of ataxia, and the recruitment of homogenous study populations, are all recommended (AU)

Acyclovir responsive brain stem disease after the Ramsay Hunt syndrome.

We report an immunocompetent patient with the Ramsay Hunt syndrome (RHS) followed days later by brainstem disease. Extensive virological studies proved that varicella zoster virus (VZV) was the causative agent. Treatment with intravenous acyclovir resulted in prompt resolution of all neurological deficits except peripheral facial palsy. This case demonstrates that after geniculate zoster, brainstem disease may develop even in an immunocompetent individual and effective antiviral therapy can be curative.

Efectos del alcohol etílico sobre el sistema nervioso / No disponible

No disponible

Changes in conditioned postural responses. Comparison between cerebellar patients and healthy subjects.

Postural responses elicited by external perturbation change characteristically during classical conditioning. This is assumed to be controlled by the cerebellum. In this study conditioning of postural responses in cerebellar patients was compared with that of healthy subjects. Subjects were tested when standing on a platform. Perturbations consisted of platform tilts (unconditioned stimulus, US), preceded by an auditory signal (conditioned stimulus, CS). The recording session consisted of US-alone and paired CS-US trials. In healthy subjects, unconditioned response (UR) amplitude decayed significantly with time in the recording session, especially strongly during paired trials. Amplitudes of cerebellar patients, however, decayed modestly and continuously, independently of the presence (paired trials) or otherwise of a CS. In addition, only healthy subjects established conditioned responses. Our data suggest that the prior auditory information is used to prepare postural responses. Deficits in cerebellar patients suggest a possible role of the cerebellum in controlling this plastic motor-related process.

Anticipatory smooth eye movements of high velocity triggered by large target steps: normal performance and effect of cerebellar degeneration.

We studied frequencies and dynamic characteristics of anticipatory smooth eye movements (ASEM) in humans who were tracking step target movements of 20-70 deg amplitude. During presentation of periodic steps of constant amplitude healthy subjects showed frequent high velocity ASEM reaching maximal peak velocities of 5-40 deg/sec. There was no effect of ASEM on the frequency of anticipatory saccades. Randomization of target step amplitude or onset reduced the frequency of ASEM but did not completely abolish fast ASEM. In patients with cerebellar degeneration who exhibited impaired smooth pursuit, fast ASEM were absent and the number of slow ASEM was minimal. In conclusion, large sequential target steps can elicit much higher ASEM velocities than typically described in the literature. Similar to slow ASEM triggered by small steps, these fast ASEM do not require specific training and are not canceled by unpredictable step target motion. However, fast ASEM depend on the intact function of the cerebellum which gives further evidence of their generation by the smooth pursuit oculomotor subsystem.

Pattern-visual evoked potentials in thinner abusers

Organic solvents cause injury to lipids of neuronal and glial membranes. A well known characteristic of workers exposed to thinner is optic neuropathy. We decided to look for neurophysiologic signs of visual damage in patients identified as thinner abusers. Pattern reversal visual evoked potentials was performed on 34 thinner abuser patients and 30 controls. P-100 wave latency was found to be longer on abuser than control subjects. Results show the possibility of central alterations on thinner abusers despite absence of clinical symptoms

Oculomotor abnormalities in Dyssynergia cerebellaris myoclonica.

In 1921 Ramsay-Hunt first described the syndrome of dyssynergia cerebellaris myoclonica (DCM), characterized by the clinical triad of action myoclonus, progressive ataxia and epilepsy with cognitive impairment, subsequently also referred to as the "Ramsay-Hunt syndrome". The cause of the symptoms of this rare degenerative syndrome (incidence: 500,000) is the impairment of a regulatory mechanism between nucleus dentatus, nucleus ruber and the bulbar olive. We present two sisters, aged 29 and 30 years, who were investigated for oculomotor abnormalities. The patients were diagnosed as having DCM according to clinical symptomatology, which was confirmed by neurophysiological and radiological findings. In both cases saccadic velocity was markedly reduced, whereas saccadic latency showed a significant increase. In addition, smooth pursuit eye-movements were abnormal and presented reduced gain. These findings suggest that pontine areas and the vestibulocerebellum also seem to be affected in DCM.

DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.

Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease with variable clinical phenotypes. Progressive ataxia, choreoathetosis, and dementia are the main clinical features of adult-onset cases, whereas the main feature in juvenile-onset DRPLA is progressive myoclonus epilepsy. Earlier onset is apparent in successive generations (anticipation). The molecular abnormality underlying DRPLA is an expanded, unstable CAG trinucleotide repeat on chromosome 12p. We analyzed 71 DNA samples obtained from 12 Japanese DRPLA pedigrees that included 38 affected individuals. Normal alleles had 7 to 23 repeats, DRPLA alleles 53 to 88 repeats. DRPLA alleles also were detected in five asymptomatic family members. Patients with juvenile onset had significantly larger repeats than did those with adult onset, and there was a significant negative correlation between CAG repeat length and age at onset. In 80% of the paternal transmissions, there was an increase of more than five repeats, whereas all the maternal transmissions showed either a decrease or an increase of fewer than five repeats. There was a significant correlation between father-child differences in repeat length and differences in age at onset. The analysis of CAG repeat length is a reliable diagnostic test for DRPLA and is of value for the presymptomatic detection of individuals at risk. The expansion of CAG repeats is important in phenotypic variation and anticipation. In addition, the sex of the transmitting parent has a significant effect on the molecular mechanism of anticipation.

Preserved simple and impaired compound movement after infarction in the territory of the superior cerebellar artery.

A patient with an infarct in the distribution of the right superior cerebellar artery was studied with regard to his ability to make simple movements (visually triggered, self-terminated ballistic wrist movements), and compound movements (reaching to a visual target and precision pinch of a seen object). Movements on the right side of the body alone were affected. Control movements were made by the normal left upper extremity. Wrist movement on the right side was normal in reaction time, direction, peak velocity, and end-point position control as compared to the left. By contrast, both reaching and pinching movements on the right were impaired. Reaching movements showed marked decomposition of the compound elbow-shoulder movement into seriatim simple movements made alternately at elbow and shoulder. Pinching movements were not made, and instead winkling movements (a movement of index alone) were substituted. These results are compared to similar results of controlled inactivation of the cerebellar dentate nucleus in monkeys. We conclude that one function of the cerebellum may be to combine elements in the movement repertoires of downstream movement generators. When that ability is lost, a strategy may be voluntarily adopted of using the preserved simple movements in place of the impaired compound movements.

Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases.

Electroclinical, morphological, biochemical and molecular genetic data from 17 patients affected by progressive myoclonus epilepsies (PME) are reported. Twelve patients were characterized by prominent action myoclonus, sporadic seizures, mild ataxia, lack of dementia and persistence of normal EEG background activity; three patients showed a more rapid worsening of symptomatology, characterized by early mental impairment, massive and action myoclonus, cerebellar signs and tonic clonic seizures; in these patients EEG background activity was slow, even in early stages of the disease. In two patients, previously classified as cryptogenetic PME, a mitochondrial aetiology was recognized by the presence of ragged red fibers in muscle biopsy and by a reduction of the respiratory chains enzymes. Molecular genetical investigation of mtDNA demonstrated the reported heteroplasmic point mutation at nt 8344 of mtDNA in the two MERRF patients, while it was negative in all of the others.

Acetazolamide improves action myoclonus in Ramsay Hunt syndrome.

The myoclonus of two patients with Ramsay Hunt syndrome was only partially controlled under treatment with clonazepam, sodium valproate, primidone, and piracetam. Acetazolamide (200 mg daily) was added to these drugs, resulting in a dramatic improvement. Placebo substitution (one patient) and withdrawal of acetazolamide in the other patient resulted in marked aggravation of the myoclonus. The mechanism of action of acetazolamide in myoclonus is unknown. Acetazolamide may be an additional therapeutic possibility for patients with severe action myoclonus.

Pathophysiology of cerebellar ataxia.

Human and animal experiments performed recently have resulted in a more detailed understanding of limb movement and body posture disorders associated with cerebellar dysfunction. The delay in movement initiation can be explained by a delay in onset of phasic motor cortex neural discharge owing to decreased input from the cerebellar hemispheres. Disorders of movement termination (dysmetria), which can occur for movements at proximal and distal joints, result from disturbances of the timing and intensity of antagonist electromyographic (EMG) activity necessary to break the movement. Disorders in velocity and acceleration of limb movements result from muscular activity that is smaller in amplitude and more prolonged. The cerebellum is important for control of constant force but not for generation of maximal force. Dysdiadochokinesia is explained by a combination of the above mentioned mechanisms. During complex movements in three-dimensional space, the cerebellum contributes to timing between single components of a movement, scales the size of muscular action, and coordinates the sequence of agonists and antagonists. The basic structure of motor programs is not generated in the cerebellum. Hypotonia can be observed only in acute cerebellar lesions. Cerebellar tremor appears to result from a central mechanism, but is modulated or provoked through increased long-loop EMG responses. The common assumption that cerebellar ataxia of stance does not improve with visual feedback is true only of vestibulocerebellar lesions, not for ataxia resulting from atrophy of the anterior lobe of the cerebellum.